Canonical Allele Identifier: CA394824360

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041986A>G (hg19) ; chr16:g.13948129A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948129A>G , CM000678.2:g.13948129A>G	GRCh38
NC_000016.9:g.14041986A>G , CM000678.1:g.14041986A>G	GRCh37
NC_000016.8:g.13949487A>G	NCBI36
NG_011442.1:g.32973A>G , LRG_463:g.32973A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2671A>G	ENSP00000507912.1:p.Asn891Asp
ENST00000683962.1:c.*2227A>G	ENSP00000506854.1:n.*2227A>G
ENST00000311895.8:c.2533A>G MANE Select	ENSP00000310520.7:p.Asn845Asp
ENST00000311895.7:c.2533A>G	ENSP00000310520.7:p.Asn845Asp
ENST00000389138.7:n.1810A>G
NM_005236.2:c.2533A>G , LRG_463t1:c.2533A>G	NP_005227.1:p.Asn845Asp
XM_011522424.1:c.2671A>G	XP_011520726.1:p.Asn891Asp
XM_011522425.1:c.1990A>G	XP_011520727.1:p.Asn664Asp
XM_011522426.1:c.1744A>G	XP_011520728.1:p.Asn582Asp
XM_011522427.1:c.1183A>G	XP_011520729.1:p.Asn395Asp
XR_932805.1:n.2692A>G
XM_011522424.3:c.2671A>G	XP_011520726.1:p.Asn891Asp
XM_017023043.2:c.1744A>G	XP_016878532.1:p.Asn582Asp
NM_005236.3:c.2533A>G MANE Select	NP_005227.1:p.Asn845Asp